Home > Gene Browser > KCNC3
KCNC3
- Synonyms
- KSHIIID, KV3.3, SCA13
- External resources
- NCBI3748
- OMIM176264
- EnsemblENSG00000131398
- HGNCHGNC:6235
- Summary
- The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 36
- Likely pathogenic
- 1
- VUS
- 18,686
- Likely benign
- 2,306
- Benign
- 223
Patient phenotypes
Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on KCNC3 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 41.9%
- Abnormality of the musculoskeletal system
- 19.4%
- Abnormality of head or neck
- 16.1%
- Abnormality of the eye
- 16.1%
- Abnormality of the cardiovascular system
- 12.9%
- Abnormality of the digestive system
- 12.9%
- Abnormality of the immune system
- 9.7%
- Abnormality of the integument
- 9.7%
- Growth abnormality
- 9.7%
- Abnormality of blood and blood-forming tissues
- 6.5%
- Abnormality of limbs
- 6.5%
- Abnormality of the genitourinary system
- 6.5%
- Abnormal cellular phenotype
- 3.2%
- Constitutional symptom
- 3.2%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the ear
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Neoplasm
- 0%
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